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Primary Ciliary Dyskinesia — RACP Adult Medicine MCQ

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ModerateRespiratoryPrimary Ciliary DyskinesiaRACP Adult Medicine

A 25-year-old man with a history of chronic sinusitis since childhood, situs inversus totalis, and male infertility presents with productive cough. HRCT shows bilateral lower-lobe bronchiectasis. Nasal nitric oxide levels are very low. Electron microscopy of nasal cilia shows outer dynein arm defects. What is the most likely aetiology of bronchiectasis?

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Correct answer: D — Primary ciliary dyskinesia

Situs inversus + chronic sinusitis + bronchiectasis + male infertility = Kartagener syndrome (a subset of primary ciliary dyskinesia). Ciliary dysfunction causes impaired mucociliary clearance (sinusitis, bronchiectasis, otitis media) and abnormal embryonic ciliary rotation (situs inversus). Low nasal NO and dynein arm defects on EM confirm PCD.

Reference: ERS – 2024 – PCD Guidelines; eTG Respiratory 2024